Incidental Mutation 'IGL02469:Akr7a5'
ID294672
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akr7a5
Ensembl Gene ENSMUSG00000028743
Gene Namealdo-keto reductase family 7, member A5 (aflatoxin aldehyde reductase)
Synonyms0610025K21Rik, Afar
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #IGL02469
Quality Score
Status
Chromosome4
Chromosomal Location139310744-139318426 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 139314181 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 134 (S134T)
Ref Sequence ENSEMBL: ENSMUSP00000073459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053862] [ENSMUST00000073787] [ENSMUST00000105801] [ENSMUST00000139840] [ENSMUST00000141007] [ENSMUST00000172747]
PDB Structure
MOUSE SUCCINIC SEMIALDEHYDE REDUCTASE, AKR7A5 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000053862
SMART Domains Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000073787
AA Change: S134T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073459
Gene: ENSMUSG00000028743
AA Change: S134T

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 25 47 N/A INTRINSIC
Pfam:Aldo_ket_red 48 356 4.4e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105801
SMART Domains Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
low complexity region 333 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139840
SMART Domains Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153645
Predicted Effect probably benign
Transcript: ENSMUST00000172747
SMART Domains Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744

DomainStartEndE-ValueType
CTNS 51 83 8.63e-4 SMART
transmembrane domain 132 149 N/A INTRINSIC
CTNS 197 228 1.15e-8 SMART
transmembrane domain 251 273 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,668,115 Q975L probably damaging Het
Acad10 T C 5: 121,645,459 Y301C probably damaging Het
Aldh4a1 C T 4: 139,648,161 T527I probably damaging Het
Atf2 A G 2: 73,846,332 V146A probably damaging Het
C2cd6 A T 1: 58,997,481 probably benign Het
Caml T C 13: 55,628,577 S210P probably damaging Het
Casp1 A C 9: 5,303,105 R186S probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr1 T A 14: 37,085,600 Q361L possibly damaging Het
Chrna3 T A 9: 55,016,006 T173S probably benign Het
Commd6 A G 14: 101,637,027 V47A probably damaging Het
Dmrtc2 T C 7: 24,872,713 probably benign Het
Dock3 T C 9: 106,986,016 D721G probably damaging Het
Dpp10 T C 1: 123,411,803 S332G probably benign Het
Dst A G 1: 34,188,828 E1834G probably damaging Het
Espl1 T A 15: 102,314,025 L1034Q probably damaging Het
Gtf2ird2 C T 5: 134,191,249 T22M probably damaging Het
Hyal2 T C 9: 107,572,212 L389P probably damaging Het
Lipa T C 19: 34,494,035 D380G probably damaging Het
March5 T G 19: 37,217,275 W111G probably damaging Het
Olfr1097 T C 2: 86,891,155 T7A possibly damaging Het
Pfkfb2 A T 1: 130,700,037 I391N probably damaging Het
Sec31a T C 5: 100,385,255 S544G probably benign Het
Slc26a9 A G 1: 131,762,936 K530E probably damaging Het
Spaca3 G A 11: 80,864,085 probably null Het
Syne3 T C 12: 104,954,306 S544G probably benign Het
Tctn3 T C 19: 40,597,523 E526G probably benign Het
Tll1 A T 8: 64,070,280 I466K probably benign Het
Ttbk1 A G 17: 46,470,630 V399A possibly damaging Het
Vmn1r47 T C 6: 90,022,453 L189P probably damaging Het
Vmn2r100 T A 17: 19,531,285 L530* probably null Het
Yipf3 T C 17: 46,250,458 probably null Het
Other mutations in Akr7a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Akr7a5 APN 4 139314269 missense probably damaging 1.00
IGL03155:Akr7a5 APN 4 139314526 nonsense probably null
R1403:Akr7a5 UTSW 4 139318123 missense probably damaging 0.99
R1403:Akr7a5 UTSW 4 139318123 missense probably damaging 0.99
R4288:Akr7a5 UTSW 4 139314104 missense probably benign 0.02
R4585:Akr7a5 UTSW 4 139310927 missense probably benign 0.09
R5067:Akr7a5 UTSW 4 139311022 missense probably damaging 1.00
R5293:Akr7a5 UTSW 4 139314206 missense probably benign 0.01
R6296:Akr7a5 UTSW 4 139318221 missense probably benign 0.25
Posted On2015-04-16